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Gene : C12orf65 Homo sapiens

Name  ? chromosome 12 open reading frame 65 Cytological Location  12q24.31
Brief Description  chromosome 12 open reading frame 65
Description  This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
  • synonyms:
  • OTTHUMG00000168852,
  • FLJ38663,
  • SPG55,
  • uc001uen.4,
  • HGNC:26784,
  • SPG55,
  • COXPD7,
  • AK095982,
  • C12orf65,
  • NM_152269
  • identifiers:
  • 91574,
  • ENSG00000130921,
  • C12orf65

Genome feature

Region: gene ? Length: 24525  
Location: 12:123233436-123257960 Cyto location: 12q24.31


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results